Varaico: Literature-Extracted Genetic Variants

PDHB

89 papers

RefSeq Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the pri...

Pfam Domains

Transket_pyraa 32–209UCSCTransketolase, pyrimidine binding domain

Transketolase_Caa 226–349UCSCTransketolase, C-terminal domain

Gene Aliases

HGNC Name

pyruvate dehydrogenase E1 subunit beta

HGNC Alias Symbols

PDHE1B; E1beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000925.4

p.V15I

c.43G>A

Surrounding Variants

1 paper

NM_000925.4

p.G17V

c.50G>T

1 paper

NM_000925.4

p.A29T

c.85G>A

4 papers

NM_000925.4

p.E14_V15Splc

c.42+1G>A

1 paper

NM_000925.4

p.V8L

c.22G>T

1 paper

NM_000925.4

p.V8L

c.22G>C

1 paper

NM_000925.4

p.A2E

c.5C>A

1 paper

NM_000925.4

p.A2T

c.4G>A

1 paper

NM_000925.4

p.M1V

c.1A>G

1 paper

NM_000925.4

p.Q32_V33Splc

c.97-3C>G

1 paper

NM_000925.4

p.V35insFs

c.104_105insG

1 paper

NM_000925.4

p.V35_R36insFs

c.105_106insA

3 papers

NM_000925.4

p.R36C

c.106C>T